CHD3

chromodomain helicase DNA binding protein 3

Summary

This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Known Variants401 total

rsidPosition (GRCh37)AllelesClassClinVar
rs145997520017:7,788,155G/A—uncertain significance
rs77271153517:7,788,166G/A—likely benign
rs196749842017:7,788,190A/C—uncertain significance
rs196749922617:7,788,194G/A—uncertain significance
rs77062596517:7,788,212G/A—uncertain significance
rs98586583817:7,788,245G/C—uncertain significance
rs77687715817:7,788,251G/T—uncertain significance
rs123622948217:7,788,260G/A—uncertain significance
rs254459169517:7,788,263G/T—uncertain significance
rs134495132817:7,788,300A/G—uncertain significance
rs93520121717:7,788,323C/T—uncertain significance
rs91498366717:7,788,329G/A—uncertain significance
rs130845069517:7,788,339T/G—uncertain significance
rs132954044217:7,788,374C/T—uncertain significance
rs76666082817:7,788,375C/T—likely benign
rs147743973417:7,788,389C/T—uncertain significance
rs20177278817:7,788,409C/G—benign
rs55273936717:7,789,063G/A——
rs57432719317:7,789,064C/G——
rs54153183717:7,789,065C/A——
rs93154317:7,792,326C/T—benign
rs6174058917:7,792,385C/T—likely benign
rs254469264917:7,792,419G/A—uncertain significance
rs254470590017:7,792,988A/T—conflicting classifications of pathogenicity
rs196854043417:7,793,002C/A—uncertain significance
rs118111518417:7,793,005C/T—uncertain significance
rs196854585217:7,793,033A/G—uncertain significance
rs135289717117:7,793,036G/A—uncertain significance
rs55003895217:7,793,083C/T—conflicting classifications of pathogenicity
rs75815059717:7,793,092C/T—uncertain significance
rs147889046517:7,793,869T/C—uncertain significance
rs54952505717:7,793,880T/G—likely benign
rs215146588517:7,793,884C/T—uncertain significance
rs74599294517:7,793,928C/T—uncertain significance
rs56966900317:7,793,950G/A—uncertain significance
rs77707785117:7,793,959A/G—likely benign
rs13830627717:7,793,967G/A—uncertain significance
rs76557862117:7,793,971C/A—likely pathogenic
rs11608708317:7,793,972G/A—likely benign
rs196871327517:7,793,976C/T—uncertain significance
rs37667074117:7,794,016A/C—uncertain significance
rs137971200917:7,794,024C/T—uncertain significance
rs77849468317:7,794,059G/A—uncertain significance
rs1245045417:7,794,202C/G—benign
rs132338603717:7,794,318C/T—uncertain significance
rs215149310317:7,796,650A/G—uncertain significance
rs75074983417:7,796,727G/A—likely benign
rs196917683417:7,796,798C/A—uncertain significance
rs19989824417:7,796,805C/G—likely benign
rs13826489917:7,796,812C/A—uncertain significance
rs14183499417:7,796,814C/T—benign
rs15079985217:7,796,815G/A—likely benign
rs196919061217:7,796,831C/T—uncertain significance
rs148932800617:7,796,833G/A—uncertain significance
rs254478885117:7,796,851C/T—uncertain significance
rs196919653417:7,796,860C/T—pathogenic
rs254478946617:7,796,878G/A—uncertain significance
rs18567891617:7,796,891G/A—likely benign
rs5794610217:7,796,897T/A—benign
rs74697074917:7,797,141G/T—uncertain significance
rs20193261817:7,797,170C/T—likely benign
rs13917382617:7,797,171G/A—likely benign
rs156784182517:7,797,216T/C—uncertain significance
rs7863260617:7,797,253G/A—likely benign
rs37235510117:7,797,485T/A—likely benign
rs254481104117:7,797,490A/G—uncertain significance
rs75056435217:7,797,508G/C—uncertain significance
rs13853948317:7,797,536G/A—likely benign
rs142507938117:7,797,557G/A—uncertain significance
rs254481242317:7,797,565G/A—uncertain significance
rs215150575317:7,797,577A/C—uncertain significance
rs76830729917:7,797,756G/A—uncertain significance
rs215150831417:7,797,780G/A—uncertain significance
rs254481853017:7,797,820G/A—uncertain significance
rs14779613817:7,797,892G/A—conflicting classifications of pathogenicity
rs130783038717:7,797,906A/C—uncertain significance
rs254481998717:7,797,913G/A—uncertain significance
rs14113806817:7,798,247G/A—uncertain significance
rs77773744017:7,798,282C/T—likely benign
rs254483007717:7,798,296A/T—uncertain significance
rs130390421917:7,798,309G/A—likely benign
rs156784499217:7,798,334G/T—likely pathogenic
rs76996281317:7,798,346G/A—likely benign
rs136249940117:7,798,406C/T—uncertain significance
rs254483283817:7,798,421C/T—uncertain significance
rs75283374017:7,798,663G/A—uncertain significance
rs196949484317:7,798,676G/C—uncertain significance
rs254484063817:7,798,699C/T—uncertain significance
rs102432476517:7,798,708G/A—uncertain significance
rs103693268717:7,798,733C/G—uncertain significance
rs254484164217:7,798,741G/A—uncertain significance
rs254484186017:7,798,751A/T—uncertain significance
rs76155761317:7,798,765C/G—uncertain significance
rs20046193917:7,798,766C/T—uncertain significance
rs20173916617:7,798,769C/G—likely benign
rs147677595917:7,798,771C/T—likely pathogenic
rs75485479417:7,798,772G/A—likely benign
rs254484278917:7,798,790C/T—uncertain significance
rs215151878717:7,798,796G/A—uncertain significance
rs254484308317:7,798,808T/A—uncertain significance

Showing 100 of 401 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.